267750.1

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Country

United Arab Emirates

HPO Terms

Nystagmus; Esotropia; Rod-cone dystrophy; Central nervous system cyst; Chorioretinal atrophy; High myopia
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Sex

Female

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_130445.4:c.2118dup2
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References

© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.